tooluniverse-variant-interpretation
tooluniverse-variant-interpretation is a Bioinformatics & life sciences skill for AI agents, published by mims-harvard in the ToolUniverse repository on GitHub. Skillspace rates tooluniverse-variant-interpretation D (69/100) and it passed the safety scan; the rating is based on static analysis only.
Clinical variant interpretation from raw variant calls to ACMG-classified recommendations with structural impact analysis. Use for VUS classification, pathogenicity assessment with cited criteria, structure-based variant impact (AlphaFold/PDB), non-coding/regulatory variant effect prediction with sequence deep-learning models (AlphaGenome, Enformer, Borzoi, ChromBPNet, Evo 2), and producing clinical-grade variant reports for return of results or molecular tumor boards. Use this whenever a user asks about a variant's significance, an intronic/promoter/enhancer/UTR non-coding variant's functional impact, or needs ACMG classification — even if they don't say "ACMG".
- Grade
- D
- Quality
- 69 / 100
- Safety
- Passed
- GitHub stars
- 1,566
Unproven: rated by static analysis only, not yet compared head-to-head.
Our two independent classifiers differ on this skill's category, so treat the placement as provisional.
This rating describes the version of the repository we crawled; it may have changed since, so go by its current files.
Our review
- Architecture
- 97 / 100
- Maturity
- Structured: ships references or scripts
- Security scan
- Low-risk patterns
- License
- Apache-2.0
- Adoption
- Adopted by 0 other repositories, in 2 collections
What the scanner flagged
- mentions secrets in text
Not checked yet
- Category is a classifier prediction; no model has read this skill yet
- Not judged on the rubric yet (not a contender in its category)
- No blind task eval yet
- Scope (portable / vendor / repo-internal) not assessed; only the top of each category is read for scope
- Sibling files (scripts, references) not fetched; security scan covers SKILL.md only
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